[马凡综合征诊断与治疗的最新进展]
[Latest advances in the diagnosis and treatment of Marfan syndrome].
作者信息
Yang Shu-Ting, Luo Fang
机构信息
Department of Pediatrics, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 311100, China.
出版信息
Zhongguo Dang Dai Er Ke Za Zhi. 2022 Jul 15;24(7):826-831. doi: 10.7499/j.issn.1008-8830.2203099.
Abstract
Marfan syndrome (MFS) is a multisystem connective tissue disease with autosomal dominant inheritance. It is mainly caused by gene mutation and often has different clinical manifestations. Neonatal MFS is especially rare with severe conditions and a poor prognosis. At present, there is still no radical treatment method for MFS, but early identification, early diagnosis, and early treatment can effectively prolong the life span of patients. This article reviews the latest advances in the diagnosis and treatment of MFS.
摘要
马凡综合征（MFS）是一种常染色体显性遗传的多系统结缔组织疾病。它主要由基因突变引起，且常常具有不同的临床表现。新生儿马凡综合征尤为罕见，病情严重且预后不良。目前，马凡综合征仍没有根治方法，但早期识别、早期诊断和早期治疗可有效延长患者寿命。本文综述了马凡综合征诊断和治疗的最新进展。
相似文献
1
[Latest advances in the diagnosis and treatment of Marfan syndrome].[马凡综合征诊断与治疗的最新进展]
Zhongguo Dang Dai Er Ke Za Zhi. 2022 Jul 15;24(7):826-831. doi: 10.7499/j.issn.1008-8830.2203099.
2
A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.一种与新生儿马凡综合征相关的新型原纤维蛋白-1基因错义突变：病例报告及突变谱综述
BMC Pediatr. 2016 Apr 30;16:60. doi: 10.1186/s12887-016-0598-6.
3
Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.中国马凡氏/类马凡氏综合征患者FBN1基因的基因检测
Clin Chim Acta. 2016 Aug 1;459:30-35. doi: 10.1016/j.cca.2016.05.021. Epub 2016 May 24.
4
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.FBN1基因的纯合和复合杂合突变：马凡综合征分子诊断中的意外发现。
J Med Genet. 2017 Feb;54(2):100-103. doi: 10.1136/jmedgenet-2016-103996. Epub 2016 Aug 31.
5
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.FBN1 基因突变分析在马凡综合征患者队列中的应用：一项 10 年单中心经验。
Clin Chim Acta. 2020 Feb;501:154-164. doi: 10.1016/j.cca.2019.10.037. Epub 2019 Nov 12.
6
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.对171例因疑似马凡综合征而转诊进行原纤维蛋白-1基因FBN1分子研究的患者进行基因型和表型分析。
Arch Intern Med. 2001 Nov 12;161(20):2447-54. doi: 10.1001/archinte.161.20.2447.
7
Genotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia.东南 Anatolia 地区马凡综合征患儿的基因型与临床表型。
Eur J Pediatr. 2024 Aug;183(8):3219-3232. doi: 10.1007/s00431-024-05579-3. Epub 2024 May 3.
8
Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the FBN1 Gene.新生儿马凡综合征婴儿成功行二尖瓣置换术一例：新型 FBN1 基因突变致
Int Heart J. 2022 Jul 30;63(4):777-781. doi: 10.1536/ihj.21-821. Epub 2022 Jul 14.
9
A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations.病例报告：马凡综合征伴 X 三体和 FBN1 及 SDHB 基因突变。
BMC Med Genomics. 2023 May 27;16(1):118. doi: 10.1186/s12920-023-01551-6.
10
A novel mutation in the neonatal region of the fibrillin (FBN)1 gene associated with a classical phenotype of Marfan syndrome (MfS). Mutations in brief no. 163. Online.原纤维蛋白（FBN）1基因新生区域的一种新型突变与马凡综合征（MfS）的经典表型相关。突变简讯第163号。在线发布。
Hum Mutat. 1998;12(2):137. doi: 10.1002/(SICI)1098-1004(1998)12:2%3C137::AID-HUMU14%3E3.0.CO;2-P.
本文引用的文献
1
An update of medical care in Marfan syndrome.马凡综合征医疗护理的最新进展。
Tzu Chi Med J. 2021 Sep 10;34(1):44-48. doi: 10.4103/tcmj.tcmj_95_20. eCollection 2022 Jan-Mar.
2
Angiotensin Receptor Blockers vs. Beta-Blocker Therapy for Marfan Syndrome: A Systematic Review and Meta-Analysis.血管紧张素受体阻滞剂与β受体阻滞剂治疗马凡综合征：系统评价和荟萃分析。
Ann Vasc Surg. 2022 May;82:347-361. doi: 10.1016/j.avsg.2021.12.073. Epub 2022 Jan 5.
3
Aortic dissection after Bentall and Bono surgery.
Arch Cardiol Mex. 2022;92(1):116-117. doi: 10.24875/ACM.20000514.
4
Progressive Microstructural Deterioration Dictates Evolving Biomechanical Dysfunction in the Marfan Aorta.进行性微观结构退化决定了马凡综合征主动脉不断演变的生物力学功能障碍。
Front Cardiovasc Med. 2021 Dec 16;8:800730. doi: 10.3389/fcvm.2021.800730. eCollection 2021.
5
Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations.11种导致马凡综合征的FBN1基因变异的分类与解读以及两个家庭的胚胎植入前基因检测（PGT）成功阻断了致病突变的传递。
Front Mol Biosci. 2021 Dec 10;8:749842. doi: 10.3389/fmolb.2021.749842. eCollection 2021.
6
Genome-wide methylation patterns in Marfan syndrome.马凡综合征的全基因组甲基化模式。
Clin Epigenetics. 2021 Dec 11;13(1):217. doi: 10.1186/s13148-021-01204-4.
7
Pathophysiology and Pathogenesis of Marfan Syndrome.马凡综合征的病理生理学和发病机制。
Adv Exp Med Biol. 2021;1348:185-206. doi: 10.1007/978-3-030-80614-9_8.
8
Neonatal Marfan syndrome with missense variant of > undergoing bilateral atrioventricular valve replacement.新生儿马凡综合征伴错义变异 > 行双侧房室瓣置换术。
Cardiol Young. 2022 May;32(5):833-836. doi: 10.1017/S1047951121003905. Epub 2021 Sep 16.
9
An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome.马凡氏综合征的研究性和实验性药物治疗策略概述
J Exp Pharmacol. 2021 Aug 11;13:755-779. doi: 10.2147/JEP.S265271. eCollection 2021.
10
The Molecular Genetics of Marfan Syndrome.马凡综合征的分子遗传学。
Int J Med Sci. 2021 May 27;18(13):2752-2766. doi: 10.7150/ijms.60685. eCollection 2021.
Zotero 插件